Molecular Diagnostic (BIO 2064)

A researcher is studying a missense mutation in a gene encoding a structural protein. The wild-type amino acid at position 80 is lysine (Lys), but due to the mutation, it is changed to arginine (Arg). This protein is important for cell stability. What type of mutation has occurred?

• A) Silent mutation

• B) Missense mutation

• C) Nonsense mutation

• D) Frameshift mutation

A geneticist discovers a mutation that changes a codon from UAA to UAG. Both of these codons are stop codons. What is the likely impact of this mutation on the protein?

• A) The protein will be truncated.

• B) There will be no impact on the protein.

• C) The protein will be extended.

• D) The protein will be non-functional.

What is the term used to describe a mutation that changes a single nucleotide in the DNA sequence?

• A) Insertion mutation

• B) Deletion mutation

• C) Point mutation

• D) Duplication mutation

Which type of mutation results in the insertion or deletion of a nucleotide, causing a shift in the reading frame of the genetic code?

• A) Silent mutation

• B) Missense mutation

• C) Nonsense mutation

• D) Frameshift mutation

What is the term for a mutation that changes a codon to a different codon that still codes for the same amino acid?

• A) Silent mutation

• B) Missense mutation

• C) Nonsense mutation

• D) Frameshift mutation

A clinical laboratory is investigating a patient suspected of having cystic fibrosis (CF), a genetic disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. The specific mutation of interest is the ΔF508 mutation, which results in the deletion of three nucleotides that encode the amino acid phenylalanine at position 508 of the CFTR protein. This mutation leads to the production of an abnormal CFTR transcript that can be detected in the patient’s cells. Which molecular diagnostic tool is most suitable for detecting the ΔF508 abnormal CFTR transcript in this patient?

• A) Southern Blotting

• B) Western Blotting

• C) RT-PCR (Reverse Transcription Polymerase Chain Reaction)

• D) Sanger Sequencing

What is a potential issue if the RT-PCR reaction amplifies the ΔF508 transcript in control samples that should not have it?

• A) The RNA sample may be contaminated with genomic DNA

• B) The primers may be too specific for the ΔF508 mutation

• C) The RT-PCR conditions are optimized

• D) The RNA extraction process was flawless

A hospital laboratory is planning to implement a new molecular diagnostic test to detect a specific genetic mutation associated with a hereditary disease. To ensure the test meets clinical requirements and performs reliably, the laboratory needs to address several factors related to quality control, sensitivity, and specificity. If a molecular diagnostic test has high sensitivity, what does this indicate about the test's performance?

• A) The test is good at identifying individuals who do not have the disease

• B) The test may produce many false positives

• C) The test is effective at detecting most individuals who have the disease

• D) The test is not suitable for detecting the disease

Which control sample is crucial to include in each test run to monitor the accuracy of the molecular diagnostic test?

• A) Negative control with no disease

• B) Positive control with the known genetic mutation

• C) Control with a different mutation

• D) Control that only tests equipment performance

What is a likely consequence if the RNA sample used in RT-PCR is contaminated with genomic DNA?

• A) Increased specificity of the assay

• B) False positive results due to amplification of genomic DNA

• C) Accurate detection of the abnormal transcript

• D) Improved sensitivity of the test